Novel homozygous FAN1 mutation in a familial case of karyomegalic interstitial nephritis

Novel homozygous FAN1 mutation in a familial case of karyomegalic interstitial nephritis

Karyomegalic interstitial nephritis (KIN) is a rare genetic kidney disease associated with a mutation in FAN1 gene and is often underdiagnosed. The histomorphology demonstrates chronic interstitial nephritis with tubular epithelial cells showing bizarre enlarged nuclei. We present a case report of a...

Full description

Bibliographic Details
Main Authors: Priyanka J Koshy, Digumarthi V. S. Sudhakar, Sneha H Anupama, Milly Mathew, Rajeevalochana Parthasarthy, Kumarasamy Thangaraj, Muhammad Magdi Yaqoob, Georgi Abraham
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Indian Journal of Nephrology
Subjects:
fan1 mutation
karyomegay
interstitial nephritis
Online Access:http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2020;volume=30;issue=4;spage=283;epage=285;aulast=Koshy

Internet

http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2020;volume=30;issue=4;spage=283;epage=285;aulast=Koshy

Similar Items